Article
[Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia].
Medicina clinica - 11 Nov 2000
Guillén M, Corella D, Luisa Cabello M, González J I, Hernández Yago J
Abstract excerpt
BACKGROUND: The aim of this study was to classify phenotypically cystinuria patients in the Comunidad Valenciana using their genealogy and to study the large heterogeneity of the disease expression. SUBJECTS AND METHOD: From 29 patients diagnosed of cystinuria, 20 families were enrolled in the study. An urine sample of every subject was collected to quantify urine amino acids using high pressure liquid...
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